Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability

Coughlin, David G.; Bardakjian, Tanya M.; Spindler, Meredith A.; Deik, Andres

Background: Hereditary myoclonus dystonia is often due to changes in the SGCE gene. Dystonia (DYT)-SGCE has a variable phenotype that can involve focal or generalized myoclonus and various forms of task-specific, segmental, or generalized dystonia. Psychiatric comorbidities are common.

Case Report: We report a case of a young woman with generalized myoclonus, dystonia, and intellectual disability. She was found to have a novel SGCE splice site variant.

Discussion: This novel variant is very likely pathogenic by in silico analysis and has not been previously reported. Additionally, her intellectual disability may constitute a novel phenotype for patients with SGCE variants.


Also Published In

Tremor and Other Hyperkinetic Movements

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
April 11, 2018